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Aliases for SNTA1 Gene

Aliases for SNTA1 Gene

  • Syntrophin Alpha 1 2 3
  • Pro-TGF-Alpha Cytoplasmic Domain-Interacting Protein 1 2 3 4
  • 59 KDa Dystrophin-Associated Protein A1 Acidic Component 1 3 4
  • Syntrophin-1 3 4
  • TACIP1 3 4
  • SNT1 3 4
  • Syntrophin, Alpha 1 (Dystrophin-Associated Protein A1, 59kDa, Acidic Component) 3
  • Syntrophin, Alpha 1 (Dystrophin-Associated Protein A1, 59kD, Acidic Component) 2
  • Dystrophin-Associated Protein A1, 59kDa, Acidic Component 3
  • Dystrophin-Associated Protein A1 2
  • Acidic Alpha 1 Syntrophin 3
  • Syntrophin, Alpha 1 5
  • Acidic Component 2
  • DJ1187J4.5 3
  • 59kDa 2
  • LQT12 3

External Ids for SNTA1 Gene

Previous HGNC Symbols for SNTA1 Gene

  • SNT1

Previous GeneCards Identifiers for SNTA1 Gene

  • GC20M031754
  • GC20M032664
  • GC20M032711
  • GC20M031459
  • GC20M031995
  • GC20M028783

Summaries for SNTA1 Gene

Entrez Gene Summary for SNTA1 Gene

  • Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]

GeneCards Summary for SNTA1 Gene

SNTA1 (Syntrophin Alpha 1) is a Protein Coding gene. Diseases associated with SNTA1 include long qt syndrome 12 and long qt syndrome. Among its related pathways are SIDS Susceptibility Pathways and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. GO annotations related to this gene include actin binding and PDZ domain binding. An important paralog of this gene is SNTG1.

UniProtKB/Swiss-Prot for SNTA1 Gene

  • Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity).

Gene Wiki entry for SNTA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNTA1 Gene

Genomics for SNTA1 Gene

Regulatory Elements for SNTA1 Gene

Promoters for SNTA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNTA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SNTA1 Gene

Chromosome:
20
Start:
33,407,955 bp from pter
End:
33,443,892 bp from pter
Size:
35,938 bases
Orientation:
Minus strand

Genomic View for SNTA1 Gene

Genes around SNTA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNTA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNTA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNTA1 Gene

Proteins for SNTA1 Gene

  • Protein details for SNTA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13424-SNTA1_HUMAN
    Recommended name:
    Alpha-1-syntrophin
    Protein Accession:
    Q13424
    Secondary Accessions:
    • A8K7H9
    • B4DX40
    • E1P5N1
    • Q16438

    Protein attributes for SNTA1 Gene

    Size:
    505 amino acids
    Molecular mass:
    53895 Da
    Quaternary structure:
    • Monomer and homodimer. Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin and calmodulin (By similarity). Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with MAPK12, TGFA and GA. Interacts with MYOC; regulates muscle hypertrophy (By similarity).

    Alternative splice isoforms for SNTA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNTA1 Gene

Proteomics data for SNTA1 Gene at MOPED

Post-translational modifications for SNTA1 Gene

  • Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNTA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SNTA1 Gene

Domains & Families for SNTA1 Gene

Gene Families for SNTA1 Gene

Protein Domains for SNTA1 Gene

Suggested Antigen Peptide Sequences for SNTA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13424

UniProtKB/Swiss-Prot:

SNTA1_HUMAN :
  • The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate.
  • Belongs to the syntrophin family.
Domain:
  • The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate.
  • The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity).
  • The SU domain binds calmodulin in a calcium-dependent manner.
  • Contains 1 PDZ (DHR) domain.
  • Contains 2 PH domains.
  • Contains 1 SU (syntrophin unique) domain.
Family:
  • Belongs to the syntrophin family.
genes like me logo Genes that share domains with SNTA1: view

Function for SNTA1 Gene

Molecular function for SNTA1 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity).

Gene Ontology (GO) - Molecular Function for SNTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IEA,IPI 10212242
genes like me logo Genes that share ontologies with SNTA1: view
genes like me logo Genes that share phenotypes with SNTA1: view

Human Phenotype Ontology for SNTA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNTA1 Gene

MGI Knock Outs for SNTA1:

Animal Model Products

miRNA for SNTA1 Gene

miRTarBase miRNAs that target SNTA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SNTA1 Gene

Localization for SNTA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNTA1 Gene

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cell junction. Cytoplasm, cytoskeleton. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNTA1 Gene COMPARTMENTS Subcellular localization image for SNTA1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
cytosol 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SNTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016013 syntrophin complex TAS 21164104
GO:0030054 cell junction IEA --
GO:0043234 protein complex IDA 18591664
genes like me logo Genes that share ontologies with SNTA1: view

Pathways & Interactions for SNTA1 Gene

genes like me logo Genes that share pathways with SNTA1: view

SIGNOR curated interactions for SNTA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SNTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 18591664
GO:0086005 ventricular cardiac muscle cell action potential IMP 18591664
genes like me logo Genes that share ontologies with SNTA1: view

Drugs & Compounds for SNTA1 Gene

(2) Drugs for SNTA1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for SNTA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SNTA1: view

Transcripts for SNTA1 Gene

mRNA/cDNA for SNTA1 Gene

Unigene Clusters for SNTA1 Gene

Syntrophin, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNTA1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
SP1: - - -
SP2: - - -
SP3:
SP4: - -
SP5:
SP6: -

Relevant External Links for SNTA1 Gene

GeneLoc Exon Structure for
SNTA1
ECgene alternative splicing isoforms for
SNTA1

Expression for SNTA1 Gene

mRNA expression in normal human tissues for SNTA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNTA1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.7) and Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for SNTA1 Gene

This gene is overexpressed in Heart (22.4), Brain (15.0), Spinal cord (9.3), Fetal heart (9.0), and Frontal cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNTA1 Gene



SOURCE GeneReport for Unigene cluster for SNTA1 Gene Hs.31121

mRNA Expression by UniProt/SwissProt for SNTA1 Gene

Q13424-SNTA1_HUMAN
Tissue specificity: High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
genes like me logo Genes that share expression patterns with SNTA1: view

Protein tissue co-expression partners for SNTA1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SNTA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNTA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNTA1 35
  • 89.31 (n)
  • 93.27 (a)
SNTA1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNTA1 35
  • 85.8 (n)
  • 87.8 (a)
SNTA1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snta1 35
  • 87.64 (n)
  • 93.59 (a)
Snta1 16
Snta1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNTA1 35
  • 99.54 (n)
  • 99.41 (a)
SNTA1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snta1 35
  • 88.51 (n)
  • 93.99 (a)
oppossum
(Monodelphis domestica)
Mammalia SNTA1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNTA1 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNTA1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNTA1 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snta1 35
  • 68.36 (n)
  • 66.53 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23870 35
zebrafish
(Danio rerio)
Actinopterygii SNTA1 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syn1 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea stn-1 37
  • 37 (a)
stn-1 36
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
ManyToMany
Species with no ortholog for SNTA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNTA1 Gene

ENSEMBL:
Gene Tree for SNTA1 (if available)
TreeFam:
Gene Tree for SNTA1 (if available)

Paralogs for SNTA1 Gene

Paralogs for SNTA1 Gene

(2) SIMAP similar genes for SNTA1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SNTA1: view

Variants for SNTA1 Gene

Sequence variations from dbSNP and Humsavar for SNTA1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1046815 - 33,410,282(-) CAGAG(C/T)TCTCT intron-variant, reference, missense
rs56157422 Long QT syndrome 12 (LQT12) 33,412,714(+) ACCTC(A/C/G)CACTA nc-transcript-variant, reference, missense
VAR_062400 Long QT syndrome 12 (LQT12)
rs149236 -- 33,435,574(+) ggcaa(C/T)agagt intron-variant
rs449493 -- 33,429,440(+) tgagg(C/G)cagga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNTA1 Gene

Variant ID Type Subtype PubMed ID
nsv522690 CNV Loss 19592680

Variation tolerance for SNTA1 Gene

Residual Variation Intolerance Score: 60.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.41; 63.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNTA1 Gene

HapMap Linkage Disequilibrium report
SNTA1
Human Gene Mutation Database (HGMD)
SNTA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNTA1 Gene

Disorders for SNTA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SNTA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 12
  • lqt 12
long qt syndrome
  • long q-t syndrome
sudden infant death syndrome
  • cot death
long qt syndrome 1
  • long qt syndrome 1, acquired
becker muscular dystrophy
  • benign congenital myopathy
- elite association - COSMIC cancer census association via MalaCards
Search SNTA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SNTA1_HUMAN
  • Long QT syndrome 12 (LQT12) [MIM:612955]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:18591664, ECO:0000269 PubMed:19684871}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SNTA1

Genetic Association Database (GAD)
SNTA1
Human Genome Epidemiology (HuGE) Navigator
SNTA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNTA1
genes like me logo Genes that share disorders with SNTA1: view

No data available for Genatlas for SNTA1 Gene

Publications for SNTA1 Gene

  1. alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. (PMID: 19684871) Wu G. … Vatta M. (Circ. Arrhythm. Electrophysiol. 2008) 3 4 23 48 67
  2. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PMID: 8576247) Ahn A.H. … Kunkel L.M. (J. Biol. Chem. 1996) 2 3 23
  3. Characterization of the dystrophin-syntrophin interaction using the two-hybrid system in yeast. (PMID: 8612778) Castello A. … Gilgenkrantz H. (FEBS Lett. 1996) 2 3
  4. The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome. (PMID: 25757662) Winkel B.G. … Jespersen T. (Heart Rhythm 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SNTA1 Gene

Sources for SNTA1 Gene

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